Annotation Detail
Information
- Associated Genes
- MLXIPL
- Associated Variants
-
APOE p.Arg176Cys (p.R176C)
(
ENST00000252486.9 )
ENSG00000287856 c.31-31129C>T, EGLN1 c.891+15770C>T ( ENST00000366641.4 )
IL6 c.-84-153C>G ( ENST00000404625.5 )
TBL2 c.*1963G>A ( ENST00000305632.11 )
MLXIPL p.Gln241His (p.Q241H) ( ENST00000313375.8, ENST00000354613.5, ENST00000414749.6, ENST00000429400.6, ENST00000434326.5 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
ENSG00000287856 c.31-31129C>T, EGLN1 c.891+15770C>T ( ENST00000366641.4 )
IL6 c.-84-153C>G ( ENST00000404625.5 )
TBL2 c.*1963G>A ( ENST00000305632.11 )
MLXIPL p.Gln241His (p.Q241H) ( ENST00000313375.8, ENST00000354613.5, ENST00000414749.6, ENST00000429400.6, ENST00000434326.5 ) - Associated Disease
- Hyperlipidemia, Familial Combined
- Source Database
- DisGeNET
- Description
- Variants more frequently identified in isolated hypertriglyceridemias were rs7412 in APOE and rs1800795 in IL6; rs2808607 in CYP7A1 and rs3812316 and rs17145738 in MLXIPL were more frequent in FCHL.
- Pubmed
- 25176936
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs